Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa

Abstract

Dystrophic epidermolysis bullosa (EB) is a heterogeneous group of inherited blistering diseases with skin cleavage beneath the basement membrane caused by mutations in COL7A1, encoding collagen VII (1). Clinical features include skin and mucosal blistering and scarring, and cover a broad range of degrees of severity. Clinical manifestations of severe generalized dystrophic EB due to loss-of-function mutations are typical, allowing a clinical diagnosis.

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